Aplastic anemia and Turner syndrome

Čuturilo, Goran; Škorić, Dejan; Grkovic, Slobodanka Miletic; Bojic, Vladislav; Rodić, Predrag; Stefanovic, Igor

doi:10.1016/j.cancergencyto.2007.09.021

Cited by 2 publications

(1 citation statement)

References 8 publications

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“…The patient was 5 years of age and suffered bleeding manifestations not unlike our first patient, and at the time of publication she was being evaluated for BMT. The authors drew no firm conclusions as to the relationship of Turner syndrome to aplastic anemia [Cuturilo et al, 2008]. We could speculate that Turner syndrome, trisomy X, and tetrasomy X could all be related to aplastic anemia.…”

Section: Discussionmentioning

confidence: 77%

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

Rush

Schaefer

Sanger

et al. 2015

Cytogenet Genome Res

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Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important.

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Section: Discussionmentioning

confidence: 77%

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

Rush

Schaefer

Sanger

et al. 2015

Cytogenet Genome Res

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The Changing Face of Turner Syndrome

et al. 2022

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Turner syndrome is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes and neurocognitive deficits. Morbidity and mortality is clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary towards the patient with Turner syndrome. A number of clinical advances has been implemented, and these are reviewed. Our understanding of the genomic architecture of Turner syndrome is advancing rapidly, and these latest developments are reviewed and discussed. Several candidate genes, genomic pathways and mechanisms, including an altered transcriptome and epigenome are also presented.

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Aplastic anemia and Turner syndrome

Cited by 2 publications

References 8 publications

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

The Changing Face of Turner Syndrome

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